Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 94, Issue 9, 1997, Pages 4526-4531

  Davis, Robert E ^a   Miller, Scott ^a   Herrnstadt, Corinna ^a   Ghosh, Soumitra S ^a   Fahy, Eoin ^a   Shinobu, Leslie A ^d   Galasko, Douglas ^b,c   Thal, Leon J ^b,c   Beal, M Flint ^d   Howell, Neil ^e   Parker Jr , W Davis ^f  

^a Migenix Inc   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^f UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE;

ALZHEIMER DISEASE; ARTICLE; BRAIN MITOCHONDRION; BRAIN TISSUE; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NERVE CELL NECROSIS; NEUROBLASTOMA CELL; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN CONTENT;

AGED; AGING; ALZHEIMER DISEASE; BASAL GANGLIA DISEASES; DIABETES MELLITUS, TYPE 2; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; LINKAGE (GENETICS); MIDDLE AGED; MITOCHONDRIA; NIEMANN-PICK DISEASES; POINT MUTATION;

EID: 12644257598     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.94.9.4526     Document Type: Article

References (44)

1. Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., et al. (1995) Nature (London) 375, 754-760.
2. Levy-Lahad, E., Wasco, W., Poorkaj, F., Romano, D. M., Ohshima, J., et al. (1995) Science 269, 973-977.
3. Goate, A. M., Chartier, M. C., Mullian, M., Brown, J., Crawford, F., et al. (1991) Nature (London) 349, 704-706.
4. Silverman, J. M., Li, G., Zaccario, M. L., Smith, C. J., Schmeidler, J., Mohs, R. C. & Davis, K. L. (1994) Arch. Gen. Psychiatry 51, 577-586.
5. Silverman, J. M., Raiford, K., Edland, S., Fillenbaum, G., Morris, J. C., Clark, C. M., Kukull, W. & Heyman, A. (1994) Neurology 44, 1253-1259.
6. Hirst, C., Yee, I. M. L. & Sadovnick, A. D. (1994) Genet. Epidemiol. 11, 365-374.
7. Payami, H., Montee, K. & Kaye, J. (1994) Am. J. Hum. Genet. 54, 650-657.
8. Duara, R., Lopez-Alberola, R. F. & Barker, W. W. (1993) Neurology 43, 1377-1384.
9. Edland, S. D., Silverman, J., Peskind, E. R., Tsaung, D., Wijsman, E. & Morris, J. C. (1996) Neurology 47, 254-256.
10. Sims, N. R., Finegan, J. M., Blass, J. P., Bowen, D. M. & Neary, D. (1987) Brain Res. 436, 30-38.
11. Hoyer, S. (1993) Prog. Neuropsychopharmacol. Biol. Psychiatry 17, 199-228.
12. Wallace, D. W. (1992) Science 256, 628-632.
13. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R. & Young, I. G. (1981) Nature (London) 290, 457-465.
14. Johns, D. R. (1995) N. Engl. J. Med. 333, 638-644.
15. Luft, R. (1994) Proc. Natl. Acad. Sci. USA 91, 8731-8738.
16. Attardi, G. & Schatz, G. (1988) Annu. Rev. Cell Biol. 4, 289-333.
17. Kroemer, G., Petit, P., Zamzami, N. & Vayssiere, J. (1995) FASEB J. 9, 1277-1287.
18. Parker, W. D., Filley, C. F. & Parks, J. K. (1990) Neurology 40, 1302-1303.
19. Kish, S., Bergeron, C., Rajput, A., Dozic, S., Mastrogiacomo, F., Chang, L.-J., Wilson, J., DiStefano, L. & Nobrega, J. (1992) J. Neurochem. 59, 776-779.
20. Mutisya, E. M., Bowling, A. C. & Beal, M. F. (1994) J. Neurochem. 63, 2179-2184.
21. Parker, W. D., Parks, J. K., Filley, C. & Kleinschmidt-DeMasters, B. K. (1994) Neurology 44, 1086-1090.
22. Chagnon, P., Betard, C., Robitaille, Y., Cholette, A. & Gauvreau, D. (1995) NeuroReport 6, 711-715.
23. Parker, W. D. Mahr, N. J., Filley, C. F., Parks, J. K., Hughes, D., Young, D. A. & Cullum, C. M. (1994) Neurology 44, 1086-1089.
24. Parker, W. D., Parks, J. K., Filley, C. M. & Kleinschmidt-DeMasters, B. K. (1994) Neurology 44, 1090-1096.
25. Parker, W. D. & Parks, J. K. (1995) Neurology 45, 482-486.
26. Schagger, H. & Ohm, T. G. (1996) Eur. J. Biochem. 227, 916-921.
27. Miller, S. M., Trimmer, P. A., Parker, W. D. & Davis, R. E. (1996) J. Neurochem. 67, 1897-1907.
28. Chomyn, A., Lai, S. T., Shakeley, R., Bresolin, N., Scarlato, G. & Attardi, G. (1994) Am. J. Hum. Genet. 54, 966-974.
29. Ghosh, S. S., Fahy, E., Bodis-Wollner, I., Sherman, J. & Howell, N. (1996) Am. J. Hum. Genet. 58, 325-344.
30. Rosenkranz, A. R., Schmaldienst, S., Stuhlmeier, K. M., Chen, W., Knapp, W. & Zlabinger, G. J. (1992) J. Immunol. Methods 156, 39-45.
31. Saunders, A., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Perikate-Vance, M. A., et al. (1993) Neurology 43, 1467-1472.
32. Tsukihara, T., Aoyama, H., Yamashita, E., Tomizaki, T., Yamaguchi, H., Shinzawa-Itohk, K., Nakashima, R., Yaano, R. & Yoshikawa, S. (1996) Science 272, 1136-1144.
33. Mossman, D. & Somoza, E. J. (1991) Neuropsychiatr. Clin. Neurosci. 3, 330-333.
34. Hansen, L., Salmon, D., Galasko, D., Masliah, E., Katzman, R., DeTeresa, R., Thal, L., Pay, M. M., Hofstetter, R., Klauher, M., Rice, V., Butters, N. & Alford, M. (1990) Neurology 40, 1-8.
35. Balazs, L. & Leon, M. (1994) Neurochem. Res. 19, 1131-1137.
36. Palmer, A. M. & Burns, M. A. (1994) Brain Res. 645, 338-342.
37. Smith, C. D., Carney, J. M., Starke-Reed, P. E., Oliver, C. N., Stadtman, E. R., Floyd, R. A. & Markesbery, W. R. (1991) Proc. Natl. Acad. Sci. USA 88, 10540-10543.
38. Mecocci, P., MacGarvey, U. & Beal, M. F. (1994) Ann. Neurol. 36, 747-751.
39. Swerdlow, R. H., Parks, J. K., Miller, S. W., Tuttle, J. B., Trimmer, P. A., Sheehan, J. F., Bennett, J. P., Davis, R. E. & Parker, W. D. (1996) Ann. Neurol. 40, 18-26.
40. Schuener, D., Eckman, C., Jensen, M., Song, X., Cihon, M., et al. (1996) Nat. Med. 2, 864-870.
41. Gabuzda, D., Busciglio, J., Chen, L. B., Matsudaira, P. & Yankner, B. A. (1994) J. Biol. Chem. 269, 13623-13628.
42. Dyrks, T., Dyrks, E., Hartmann, T., Masters, C. L. & Beyreuther, K. J. (1992) J. Biol. Chem. 267, 18210-18217.
43. Schweers, O., Mandelkow, E.-M., Biernat, J. & Mandelkim, E. (1995) Proc. Natl. Acad. Sci. USA 92, 8463-8467.
44. Roder, H. M. & Ingram, V. M. (1991) J. Neurosci. 11, 3325-3343.